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NAGPA Gene

protein-coding   GIFtS: 50

GC16M005014
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
APAA 1, 2
EC 3.1.4.45 3
UCE 1, 2
Descriptions
Mannose 6-phosphate-uncovering enzyme 2, 3
N-acetylglucosamine-1-phosphodiester
alpha-N-acetylglucosaminidase 2
Phosphodiester alpha-GlcNAcase 2, 3
alpha-N-acetylglucosaminyl phosphodiesterase 2
lysosomal alpha-N-acetylglucosaminidase 2
External Ids
HGNC: 173781
Entrez Gene: 511722
UniProtKB: Q9UK233
Ensembl: ENSG000001031747
Search outside databases for aliases for NAGPA gene

Previous GC identifers: GC16M005107 GC16M005075

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for NAGPA:
Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the
trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation
of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as
'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues
from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. This reaction
most likely occurs in the trans-Golgi network. This enzyme functions as a homotetramer of two
disulfide-linked homodimers. In addition to having an N-terminal signal peptide, the
protein's C-terminus contains multiple signals for trafficking it between lysosomes, the
plasma membrane, and trans-Golgi network. [provided by RefSeq]

UniProtKB/Swiss-Prot: NAGPA_HUMAN, Q9UK23
Function: Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on
lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose
moieties, which are formed in the first step

Gene Wiki entry for NAGPA

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the NAGPA gene  

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

NAGPA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M005014:     (about GC identifiers)

Start:
5,014,846 bp from pter
End:
5,023,937 bp from pter
Size:
9,092 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000016.8  NT_037887.4  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: NAGPA_HUMAN, Q9UK23 (See protein sequence)
Recommended Name: N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase precursor  
Size: 515 amino acids; 56153 Da
Subunit: Homotetramer arranged as two disulfide-linked homodimers (By similarity)
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type I membrane protein.
Note=Cis/medial Golgi
Secondary accessions: Q96EJ8
Alternative splicing: 3 isoforms:  Q9UK23-1   Q9UK23-2   Q9UK23-3   

REFSEQ proteins: NP_057340.2  

ENSEMBL proteins: 
ENSP00000310998 ENSP00000371381 


Human Recombinant Proteins 
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Browse Abcam for Recombinant Proteins
Human Recombinant Proteins from Abnova (NAGPA)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005794 Golgi apparatus IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane TAS10551838
About this table

Antibodies for NAGPA: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Monoclonal and Polyclonal Antibodies from Abnova (NAGPA)
Novus Biologicals Antibody for NAGPA

Assays for NAGPA: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

4 InterPro domains/families:
 IPR000742 EGF_3
 IPR013032 EGF-like_reg_CS
 IPR013111 EGF_extracell
 IPR006210 EGF-like


   GeneDecks  NAGPA for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9UK23

ProtoNet protein and cluster: Q9UK23

UniProtKB/Swiss-Prot: NAGPA_HUMAN, Q9UK23
Domain: The tyrosine-based internalization signal may be essential for its retrieval from the
plasma membrane to the TGN
Domain: The C-terminal NPFKD sequence is an attractive candidate for either an endocytosis signal
acting at the plasma membrane or a retrieval signal acting at the TGN to return the enzyme to the
cis/medial-Golgi
Similarity: Contains 1 EGF-like domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (NAGPA)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (NAGPA)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_016256

              Applied Biosystems Silencer® siRNAs for NAGPA

              Sigma-Aldrich siRNA for NAGPA  
                     Sigma-Aldrich shRNA for NAGPA  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_016256
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_016256
                                 untagged cDNA clone in CMV expression vector: NM_016256 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_016256

UniProtKB/Swiss-Prot: NAGPA_HUMAN, Q9UK23
Function: Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on
lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose
moieties, which are formed in the first step
Catalytic activity: Glycoprotein N-acetyl-D-glucosaminyl-phospho-D-mannose + H(2)O =
N-acetyl-D-glucosamine + glycoprotein phospho-D-mannose
Enzyme Number (IUBMB): EC 3.1.4.45 

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003944 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity TAS10551838
GO:0016787 hydrolase activity IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


UniProtKB/Swiss-Prot: NAGPA_HUMAN, Q9UK23
Pathway: Protein modification; protein glycosylation


5/13 Interacting proteins for NAGPA (ENSP000003109983) via UniProtKB, MINT, and/or STRING (see all 13 )

InteractantInteraction Details
GeneCardExternal ID(s)
ALPIENSP000002954633STRING (score=.868)
ALPLENSP000003639653STRING (score=.868)
CD4ENSP000000116533STRING (score=.756)
ICAM1ENSP000002648323STRING (score=.746)
CD8AENSP000002836353STRING (score=.744)
About this table

4 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005975 carbohydrate metabolic process TAS10551838
GO:0006464 protein modification process TAS10551838
GO:0006622 protein targeting to lysosome TAS10551838
GO:0007040 lysosome organization TAS10551838
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for NAGPA
5 Novoseek chemical compound relationships for NAGPA gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
mannose 6-phosphate 89.04 12 15864430 (1), 12058031 (1), 17927214 (1), 8294420 (1) (see all 7)
udp-n-acetylglucosamine 75.62 2 8294420 (1), 2167847 (1)
n-acetylglucosamine 72.69 6 15864430 (1), 12058031 (1), 7786023 (1), 11408573 (1)
phosphodiester 72.65 15 8294420 (4), 10551838 (4), 7786023 (2)
mannose 45.67 2 12058031 (1), 11723124 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (NAGPA)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (NAGPA)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_016256

              Sigma-Aldrich siRNA for NAGPA  
                     Sigma-Aldrich shRNA for NAGPA  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_016256  

REFSEQ mRNAs for NAGPA gene: 

NM_016256.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_016256  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_016256
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_016256
                                 untagged cDNA clone in CMV expression vector: NM_016256 

Additional cDNA sequence: 

AF052111.1 AF187072.1 AK025570.1 AK026122.1 AK127952.1 AK302916.1 AK314320.1 BC012194.1 
CR598113.1 CR599974.1 CR601621.1 

11 DOTS entries:

DT.312162  DT.100790624  DT.100790628  DT.92023445  DT.95199040  DT.100790623  DT.95280284  DT.100024248 
DT.100767383  DT.87010533  DT.92424627 

24/131 AceView cDNA sequences (see all 131 ):

BU844409 CB123089 CR598113 CR601621 BI193076 AL524697 BM457386 CR599974 
AA047671 AW239249 BU859544 BI753989 BU188674 BX352485 AI805575 AF052111 
BX401157 BX341574 BI517588 AI452628 BQ372847 BX377209 BI518126 BQ962119 

highest scoring ESTs for NAGPA:

AF187072 AK025570 AK026122 AK127952 AU280565 AW239249 BC012194 BG328417 BG422200 BG470128 

Unigene Cluster for NAGPA:

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Hs.21334  [show with all ESTs]
Unigene Representative Sequence: BC012194


GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for NAGPA (see all 13 )

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b ·
SP1:                                      -                 -                                                                                                   
SP2:                                      -                 -                       -     -                                                                     
SP3:                                                                                                                                                            
SP4:                                      -                 -                       -     -     -     -     -     -     -     -     -     -     -               
SP5:                                -     -                 -                       -     -                                                                     

ExUns: 13c
SP1:      
SP2:      
SP3:      
SP4:      
SP5:      

About this scheme

ECgene alternative splicing isoforms for NAGPA

2 Ensembl transcripts including schematic representations:
ENST00000312251  ENST00000381955  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

NAGPA expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for NAGPA

1 / 2 / 3

5 probe-sets matching NAGPA gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

48811_at2, 3 U95-B 1 1.00 1.00 0.88 1.27 AW007594 0.60 1.00 0.82 1

38956_at2, 3 U95-A 1 1.00 1.00 0.77 1.00 AF052111 0.60 1.00 0.82 1

70257_i_at2, 3 U95-D 1 1.00 1.00 0.76 0.74 AI805575 0.40 1.00 0.76 1

205090_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_016256 0.60 1.00 0.82 1

205090_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TTTACAGACC

SOURCE GeneReport for Unigene cluster: Hs.21334

Expression variation in blood from EXPOLDB for NAGPA

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for NAGPA gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
NAGPA1   -- N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 86.58(n)
85.8(a)
490019  XM_547139.2  XP_547139.2 
chimpanzee
(Pan troglodytes)
NAGPA1   -- N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 99.35(n)
99.61(a)
453894  XM_510795.2  XP_510795.2 
cow
(Bos taurus)
NAGPA1   -- N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 85.37(n)
83.11(a)
515935  XM_594044.3  XP_594044.2 
rat
(Rattus norvegicus)
Nagpa1   -- N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 81.81(n)
81.36(a)
360476  XM_340751.3  XP_340752.2 
mouse
(Mus musculus)
Nagpa1, 5 165
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase1, 5 82.33(n)1
80.58(a)1
274261  NM_013796.21  NP_038824.11 
 AF1870735  AI5961805  (see all 18)
About this table        Species with no ortholog for NAGPA

ENSEMBL Gene Tree for NAGPA
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/68 NCBI SNPs in NAGPA are shown (see all 68 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 55)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 16 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs71101,2
A,C,F,H,O5014953(-) GATGAA/GATCAT 1 -- ut3118Minor allele frequency- G:0.29EA MN EU WA NA 3138
rs10456931,2
A,C,F,H5015227(-) GCTGCC/TGAGAA 1 -- ut31 ese313Minor allele frequency- T:0.45EU EA WA NA 2118
rs71888561,2
A,C,F,H5015634(+) CTGCAG/ATGCTG 1 I/T mis1 ese311Minor allele frequency- A:0.21EU EA WA NA 948
--
rs159511,2
A,C,F5015249(-) TGCTTT/CTCGCC 1 -- ut315Minor allele frequency- C:0.47MN NA EA 546
rs9178971,2
C,F,H5015154(-) TGCCAA/GCGAAC 1 -- ut31 ese38Minor allele frequency- G:0.01MN EU EA WA NA 736
rs8878551,2
F,H5015341(-) GATAGC/GACTTG 1 -- ut318Minor allele frequency- G:0.01NA EA MN EU WA 838
--
rs29371131,2
C5015247(-) CTTCTC/GGCCTG 1 -- ut31 ese30--------
rs133806131,2
H5015428(+) AGCCAG/AACCGT 1 -- ut314Minor allele frequency- A:0.00EU EA WA 386
--
rs29086661,2
C5025078(-) ctgggC/Tgacaa 1 -- ng310--------
--
rs124487091,2
C5014426(+) aaaaaA/Gtttta 1 -- ng510--------
About this table

HapMap Linkage Disequilibrium images for NAGPA (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 607985

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/18 PubMed articles for NAGPA gene (see all 18 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 51172 HGNC: 17378 AceView: NAGPA Ensembl:ENSG00000103174 euGenes: HUgn51172
ECgene: NAGPA H-InvDB: NAGPA
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for NAGPA:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Antibodies for NAGPA

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